SWISSVAR
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1 protein found in SwissVar (42 variants)

with gene/protein name O43602

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
O43602 DCX_HUMAN lissencephaly, x-linked 1 p.Thr42Ile
p.Leu43Ser
p.Ser47Arg
p.Arg59Leu
p.Asn60Asp
p.Asp62Asn
p.Ala71Ser
p.Gly100Ala
p.Arg102Ser
p.Tyr125His
p.Arg192Trp
p.Arg196His
p.Thr203Arg
p.Phe243Leu
p.Asp262Gly















O43602 DCX_HUMAN subcortical band heterotopia x-linked p.Ser47Arg
p.Lys50Asn
p.Arg59Leu
p.Arg59His
p.Asp62Asn
p.Gly67Glu
p.Arg78Leu
p.Asp86His
p.Arg89Gly
p.Leu97Arg
p.Gly100Ala
p.Ile104Thr
p.Tyr125Asp
p.Tyr125His
p.Arg178Cys
p.Arg178Leu
p.Arg186Cys
p.Pro191Leu
p.Pro191Arg
p.Arg192Trp
p.Asn200Lys
p.Asn200Ile
p.Thr203Ala
p.Thr203Arg
p.Ile214Thr
p.Thr222Ile
p.Gly223Glu
p.Gly223Val
p.Val236Ile
p.Ile250Thr
p.Ile250Asn
p.Ala251Val
p.Ala251Ser
p.Gly253Asp
p.Asp262Gly



































O43602 DCX_HUMAN lissencephaly